ClinVar Miner

Submissions for variant NM_001134793.2(HYLS1):c.771T>C (p.His257=)

gnomAD frequency: 0.00001  dbSNP: rs953498744
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932189 SCV001077869 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832122 SCV002085059 likely benign Hydrolethalus syndrome 2020-04-06 no assertion criteria provided clinical testing

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